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'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2001
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC64805/ https://www.ncbi.nlm.nih.gov/pubmed/11737931 http://dx.doi.org/10.1186/rr82 |